Linked Data
ClinVar Variation Id:
803264
ClinVar RCV Id:
RCV000989616
dbSNP Id:
rs587782476
ExAC:
16:68771347 CGCT / C
gnomAD v2:
16-68771347-CGCT-C
gnomAD v3:
16-68737444-CGCT-C
gnomAD v4:
16-68737444-CGCT-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68737459_68737461del , CM000678.2:g.68737459_68737461del | GRCh38 |
| NC_000016.9:g.68771362_68771364del , CM000678.1:g.68771362_68771364del | GRCh37 |
| NC_000016.8:g.67328863_67328865del | NCBI36 |
| NG_008021.1:g.5168_5170del , LRG_301:g.5168_5170del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261769.10:c.44_46del MANE Select | ENSP00000261769.4:p.Leu15del | |
| ENST00000261769.9:c.44_46del | ENSP00000261769.4:p.Leu15del | |
| ENST00000422392.6:c.44_46del | ENSP00000414946.2:p.Leu15del | |
| ENST00000566510.5:c.44_46del | ENSP00000458139.1:p.Leu15del | |
| ENST00000566612.5:c.44_46del | ENSP00000454782.1:p.Leu15del | |
| ENST00000611625.4:c.44_46del | ENSP00000481063.1:p.Leu15del | |
| ENST00000612417.4:c.44_46del | ENSP00000478360.1:p.Leu15del | |
| ENST00000621016.4:c.44_46del | ENSP00000480664.1:p.Leu15del | |
| NM_004360.3:c.44_46del , LRG_301t1:c.44_46del | NP_004351.1:p.Leu15del | |
| NM_001317184.1:c.44_46del | NP_001304113.1:p.Leu15del | |
| NM_001317185.1:c.-1572_-1570del | NP_001304114.1:n.-1572_-1570del | |
| NM_001317186.1:c.-1776_-1774del | NP_001304115.1:n.-1776_-1774del | |
| NM_004360.4:c.44_46del | NP_004351.1:p.Leu15del | |
| NM_004360.5:c.44_46del MANE Select | NP_004351.1:p.Leu15del | |
| NM_001317184.2:c.44_46del | NP_001304113.1:p.Leu15del | |
| NM_001317185.2:c.-1572_-1570del | NP_001304114.1:n.-1572_-1570del | |
| NM_001317186.2:c.-1776_-1774del | NP_001304115.1:n.-1776_-1774del |